Correlation Analyses of Clinical Manifestations and Variant Effects in KCNB1-Related Neurodevelopmental Disorder

• Váldodahkkit: Juan Xiong (Dahkki), Zhonghua Liu (Dahkki), Shimeng Chen (Dahkki), Miriam Kessi (Dahkki), Baiyu Chen (Dahkki), Haolin Duan (Dahkki), Xiaolu Deng (Dahkki), Lifen Yang (Dahkki), Jing Peng (Dahkki), Fei Yin (Dahkki)
• Materiálatiipa: Girji
• Almmustuhtton: Frontiers Media S.A., 2022-01-01T00:00:00Z.
• Fáttát: article
• Liŋkkat: Connect to this object online.

Objective:Vitro functional analyses of KCNB1 variants have been done to disclose possible pathogenic mechanisms in KCNB1-related neurodevelopmental disorder. "Complete or partial loss of function (LoF)," "dominant-negative (DN) effect" are applied to describe KCNB1 variant's...